Olgu Sunumu
Yıl 2023,
Cilt: 1 Sayı: 3, 94 - 98, 10.09.2023
Öz
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive chromosomal instability typically characterized by microcephaly, growth retardation, bird-like facial appearance, immunodeficiency, radiation hypersensitivity, and a predisposition to malignancies. Patients with NBS have an increased risk for lymphomas, mainly non-Hodgkin's lymphoma (NHL). Diffuse large B-cell lymphoma is one of the most common type of lymphoma in NBS patients. Prognosis is still poor. Herein, we, for the first time, report NBS in fraternal twins and synchronous development of NHL
Anahtar Kelimeler
Nijmegen Breakage Syndrome Non-Hodgkin’s Lymphoma fraternal twins. chromosomal instability
Kaynakça
- Varon R, Demuth I, Chrzanowska KH. Nijmegen Breakage Syndrome. In: GeneReviews®[Internet]. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, (editors). Seattle (WA): University of Washington, Seattle; 1999: pp: 1993–2021
- Tekin M, Doğu F, Taçyíldiz N, Akar E, Ikincioğullari A, Oğur G et al. 657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family. Clin Genet 2002; 62: 84-8.
- Filipovich AH, Shapiro R, Robison L, Mertens A, Fizzera G. Lymphoproliferative disorders associated with immunodeficiency. In: The Non-Hodgkin’s Lymphomas. McGath IT (editor), London; Edward Arnold, 1990: pp: 459
- Gładkowska-Dura M, Dzierzanowska-Fangrat K, Dura WT, van Krieken JH, Chrzanowska KH, van Dongen JJ et al. Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation. J Pathol 2008; 216: 337-44.
- Haas OA. Primary Immunodeficiency and Cancer Predisposition Revisited: Embedding Two Closely Related Concepts Into an Integrative Conceptual Framework. Front Immunol 2019; 12:9:3136.
- Seidemann K, Henze G, Beck JD, Sauerbrey A, Kühl J, Mann G, et al. Non-Hodgkin's lymphoma in pediatric patients with chromosomal breakage syndromes (AT and NBS): experience from the BFM trials. Ann Oncol 2000; 11: 141-5.
- Termuhlen AM, Smith LM, Perkins SL, Lones M, Finlay JL, Weinstein H et al. Outcome of newly diagnosed children and adolescents with localized lymphoblastic lymphoma treated on Children's Oncology Group trial A5971: a report from the Children's Oncology Group. Pediatr Blood Cancer 2012; 15: 59: 1229-33.
- Seidemann K, Tiemann M, Henze G, Sauerbrey A, Müller S, Reiter A. Therapy for non-Hodgkin lymphoma in children with primary immunodeficiency: analysis of 19 patients from the BFM trials. Med Pediatr Oncol 1999; 33: 536-44.
- Dembowska-Baginska B, Perek D, Brozyna A, Wakulinska A, Olczak-Kowalczyk D, Gladkowska-Dura M et al. Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). Pediatr Blood Cancer 2009; 52: 186-90.
- Bienemann K, Burkhardt B, Modlich S, Meyer U, Möricke A, Bienemann K et al. Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): a retrospective survey. Br J Haematol 2011; 155: 468-76.
- Wolska-Kuśnierz B, Gregorek H, Chrzanowska K, Piątosa B, Pietrucha B, Heropolitańska-Pliszka E et al. Inborn Errors Working Party of the Society for European Blood and Marrow Transplantation and the European Society for Immune Deficiencies. Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis. J Clin Immunol. 2015; 35: 538-49.
Yıl 2023,
Cilt: 1 Sayı: 3, 94 - 98, 10.09.2023
Öz
Kaynakça
- Varon R, Demuth I, Chrzanowska KH. Nijmegen Breakage Syndrome. In: GeneReviews®[Internet]. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, (editors). Seattle (WA): University of Washington, Seattle; 1999: pp: 1993–2021
- Tekin M, Doğu F, Taçyíldiz N, Akar E, Ikincioğullari A, Oğur G et al. 657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family. Clin Genet 2002; 62: 84-8.
- Filipovich AH, Shapiro R, Robison L, Mertens A, Fizzera G. Lymphoproliferative disorders associated with immunodeficiency. In: The Non-Hodgkin’s Lymphomas. McGath IT (editor), London; Edward Arnold, 1990: pp: 459
- Gładkowska-Dura M, Dzierzanowska-Fangrat K, Dura WT, van Krieken JH, Chrzanowska KH, van Dongen JJ et al. Unique morphological spectrum of lymphomas in Nijmegen breakage syndrome (NBS) patients with high frequency of consecutive lymphoma formation. J Pathol 2008; 216: 337-44.
- Haas OA. Primary Immunodeficiency and Cancer Predisposition Revisited: Embedding Two Closely Related Concepts Into an Integrative Conceptual Framework. Front Immunol 2019; 12:9:3136.
- Seidemann K, Henze G, Beck JD, Sauerbrey A, Kühl J, Mann G, et al. Non-Hodgkin's lymphoma in pediatric patients with chromosomal breakage syndromes (AT and NBS): experience from the BFM trials. Ann Oncol 2000; 11: 141-5.
- Termuhlen AM, Smith LM, Perkins SL, Lones M, Finlay JL, Weinstein H et al. Outcome of newly diagnosed children and adolescents with localized lymphoblastic lymphoma treated on Children's Oncology Group trial A5971: a report from the Children's Oncology Group. Pediatr Blood Cancer 2012; 15: 59: 1229-33.
- Seidemann K, Tiemann M, Henze G, Sauerbrey A, Müller S, Reiter A. Therapy for non-Hodgkin lymphoma in children with primary immunodeficiency: analysis of 19 patients from the BFM trials. Med Pediatr Oncol 1999; 33: 536-44.
- Dembowska-Baginska B, Perek D, Brozyna A, Wakulinska A, Olczak-Kowalczyk D, Gladkowska-Dura M et al. Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). Pediatr Blood Cancer 2009; 52: 186-90.
- Bienemann K, Burkhardt B, Modlich S, Meyer U, Möricke A, Bienemann K et al. Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): a retrospective survey. Br J Haematol 2011; 155: 468-76.
- Wolska-Kuśnierz B, Gregorek H, Chrzanowska K, Piątosa B, Pietrucha B, Heropolitańska-Pliszka E et al. Inborn Errors Working Party of the Society for European Blood and Marrow Transplantation and the European Society for Immune Deficiencies. Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis. J Clin Immunol. 2015; 35: 538-49.
Toplam 11 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Klinik Tıp Bilimleri |
| Bölüm | Case Reports |
| Yazarlar | |
| Yayımlanma Tarihi | 10 Eylül 2023 |
| Gönderilme Tarihi | 27 Ocak 2023 |
| Yayımlandığı Sayı | Yıl 2023 Cilt: 1 Sayı: 3 |
Journal of Bursa Faculty of Medicine, hosted by Turkish JournalPark ACADEMIC, is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
2023